Postmortem Cardiomyopathy and Arrhythmia Gene Panel, Tissue
Use
This test provides a comprehensive postmortem genetic evaluation in cases of sudden death attributed to cardiomyopathy or suspected cardiac arrhythmia. It is useful for individuals with a personal or family history suggestive of hereditary forms of cardiomyopathy or cardiac arrhythmia. Identifying a disease-causing variant can assist in risk assessment and predictive testing for at-risk family members.
Special Instructions
This test is intended when whole blood is not available, and formalin-fixed, paraffin-embedded (FFPE) tissue is the only specimen. For whole blood, consider CACMG / Comprehensive Arrhythmia and Cardiomyopathy Gene Panel, Varies. New York clients must have informed consent on file.
Limitations
Next-generation sequencing may not detect all genomic variants. The test has limitations in detecting deletions/insertions of 40 or more base pairs and may not detect low levels of mosaicism. Some regions may not be effectively evaluated due to technical limitations, such as regions of homology or high GC content. Confirmation by Sanger sequencing is not performed for this test. Deletion/duplication analysis is not performed due to the FFPE specimen type.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
Result Turnaround Time
28-42 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (FFPE)
Volume
Not provided
Minimum Volume
Not provided
Container
Tissue block
Collection Instructions
Submit a formalin-fixed, paraffin-embedded tissue block
Causes for Rejection
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient preferred |
| Refrigerated | Refrigerated |
